T62T (p.Thr62Thr) variant of ACAN (Aggrecan core protein)
T62T (p.Thr62Thr) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T62T (p.Thr62Thr) variant details
- p.Thr62Thr
- gnomAD 15-88838778-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0891
- CADD 1.26
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available